Variant report

Variant	esv3353842
Chromosome Location	chr2:10028850-10029280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10028962..10031960-chr2:10261510..10264427,2	K562	blood:
2	chr2:10019152..10020684-chr2:10028239..10030255,2	MCF-7	breast:
3	chr2:9982784..9985771-chr2:10027787..10030557,2	MCF-7	breast:
4	chr2:9995313..9997002-chr2:10028213..10029998,2	MCF-7	breast:
5	chr2:10027283..10029259-chr2:10030456..10033188,2	K562	blood:

Variant related genes	Relation type
ENSG00000171848	chromatin interactions
ENSG00000115750	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537371109	chr2:10028873-10028874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79660160	chr2:10028918-10028919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201094480	chr2:10028920-10028921	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78198530	chr2:10028922-10028923	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76890610	chr2:10028923-10028924	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201873878	chr2:10028927-10028928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs200784006	chr2:10028932-10028933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77702138	chr2:10028939-10028940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs56125595	chr2:10028946-10028947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs57628556	chr2:10028952-10028953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs374596451	chr2:10028954-10028955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542757645	chr2:10028963-10028964	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564358012	chr2:10028972-10028973	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552794522	chr2:10029001-10029002	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187372151	chr2:10029036-10029037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs446907	chr2:10029063-10029064	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554992631	chr2:10029079-10029080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs62127143	chr2:10029082-10029083	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs202006314	chr2:10029102-10029103	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs147713916	chr2:10029135-10029136	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs563605360	chr2:10029170-10029171	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191694989	chr2:10029178-10029179	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs71391103	chr2:10029196-10029197	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546332581	chr2:10029207-10029208	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs559603626	chr2:10029217-10029218	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Neuroblastoma	18923524	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9987200-10038400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:9993800-10079600	Weak transcription	Gastric	stomach
3	chr2:9995800-10038000	Weak transcription	Small Intestine	intestine
4	chr2:9998200-10035600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:9998800-10032200	Weak transcription	Fetal Heart	heart
6	chr2:9998800-10036400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:9999000-10035800	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:9999000-10035800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:9999000-10037000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:9999000-10037200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:9999200-10036200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:9999200-10036400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:9999200-10053800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:10014800-10045400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:10015000-10036200	Weak transcription	Fetal Kidney	kidney
16	chr2:10017600-10036200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr2:10017800-10073000	Weak transcription	Right Ventricle	heart
18	chr2:10018400-10035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:10018800-10036200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:10019000-10036000	Weak transcription	Stomach Mucosa	stomach
21	chr2:10019800-10037200	Weak transcription	HUVEC	blood vessel
22	chr2:10020200-10029800	Weak transcription	HSMMtube	muscle
23	chr2:10020200-10032200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:10020400-10037400	Weak transcription	K562	blood
25	chr2:10020800-10029000	Weak transcription	HepG2	liver
26	chr2:10021800-10029200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:10023800-10035000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:10023800-10035800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:10024200-10030000	Weak transcription	Aorta	Aorta
30	chr2:10024400-10034800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:10024400-10036000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:10024400-10037600	Weak transcription	Psoas Muscle	Psoas
33	chr2:10024400-10053800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:10024600-10036400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:10024600-10037600	Weak transcription	Pancreas	Pancrea
36	chr2:10024800-10036200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:10024800-10036400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:10024800-10047600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr2:10024800-10051400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:10025000-10030200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:10025000-10031600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:10025000-10032200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:10025000-10036200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:10025000-10047000	Weak transcription	Thymus	Thymus
45	chr2:10025000-10053800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr2:10025000-10053800	Weak transcription	Ovary	ovary
47	chr2:10025000-10054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:10025000-10054400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:10025000-10054400	Weak transcription	Spleen	Spleen
50	chr2:10025200-10029800	Weak transcription	Liver	Liver

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